Canonical Allele Identifier: CA123430
Gene: PTH1R HGNC NCBI

Linked Data

ClinVar Variation Id: 13750
ClinVar RCV Id: RCV000014757
dbSNP Id: rs121434604
gnomAD v4: 3-46895866-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46895866C>T , CM000665.2:g.46895866C>T GRCh38
NC_000003.11:g.46937356C>T , CM000665.1:g.46937356C>T GRCh37
NC_000003.10:g.46912360C>T NCBI36
NG_008864.1:g.23121C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000449590.6:c.310C>T MANE Select ENSP00000402723.1:p.Arg104Ter
ENST00000313049.9:c.310C>T ENSP00000321999.4:p.Arg104Ter
ENST00000418619.5:c.310C>T ENSP00000411424.1:p.Arg104Ter
ENST00000427125.6:c.310C>T ENSP00000400977.2:p.Arg104Ter
ENST00000428220.1:c.310C>T ENSP00000389811.1:p.Arg104Ter
ENST00000430002.6:c.310C>T ENSP00000413774.2:p.Arg104Ter
ENST00000449590.5:c.310C>T ENSP00000402723.1:p.Arg104Ter
ENST00000490109.1:n.330C>T
NM_000316.2:c.310C>T NP_000307.1:p.Arg104Ter
NM_001184744.1:c.310C>T NP_001171673.1:p.Arg104Ter
XM_005265344.2:c.217C>T XP_005265401.1:p.Arg73Ter
XM_011533967.1:c.349C>T XP_011532269.1:p.Arg117Ter
XM_011533968.1:c.331C>T XP_011532270.1:p.Arg111Ter
XM_005265344.3:c.217C>T XP_005265401.1:p.Arg73Ter
XM_011533967.3:c.349C>T XP_011532269.1:p.Arg117Ter
XM_011533968.2:c.331C>T XP_011532270.1:p.Arg111Ter
XM_017006932.2:c.349C>T XP_016862421.1:p.Arg117Ter
XM_017006933.1:c.310C>T XP_016862422.1:p.Arg104Ter
XM_017006934.1:c.349C>T XP_016862423.1:p.Arg117Ter
NM_000316.3:c.310C>T MANE Select NP_000307.1:p.Arg104Ter